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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:
CA2407514285
Gene: SAMM50
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.43998573_43998574delinsAC , CM000684.2:g.43998573_43998574delinsAC
GRCh38
NC_000022.10:g.44394453_44394454delinsAC , CM000684.1:g.44394453_44394454delinsAC
GRCh37
NC_000022.9:g.42725786_42725787delinsAC
NCBI36
NG_029743.1:g.4363_4364delinsAC
NG_029743.2:g.4363_4364delinsAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000465768.1:n.79+8167_79+8168delinsAC
Search 100 bp 5'
Search 100 bp 3'