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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2577674649
Gene: MN1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.27750833del , CM000684.2:g.27750833del
GRCh38
NC_000022.10:g.28146821del , CM000684.1:g.28146821del
GRCh37
NC_000022.9:g.26476821del
NCBI36
NG_023258.1:g.55666del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000703102.1:n.570del
ENST00000302326.5:c.*82del
MANE Select
ENSP00000304956.4:n.*82del
ENST00000302326.4:c.*82del
ENSP00000304956.4:n.*82del
ENST00000424656.1:c.398del
ENST00000497225.1:n.401del
NM_002430.2:c.*82del
NP_002421.3:n.*82del
NM_002430.3:c.*82del
MANE Select
NP_002421.3:n.*82del
Search 100 bp 5'
Search 100 bp 3'