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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:
CA2814253474
Gene: NPHS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.35831107_35831154dup , CM000681.2:g.35831107_35831154dup
GRCh38
NC_000019.9:g.36322009_36322056dup , CM000681.1:g.36322009_36322056dup
GRCh37
NC_000019.8:g.41013849_41013896dup
NCBI36
NG_013356.2:g.43138_43185dup , LRG_693:g.43138_43185dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000378910.10:c.3388-4_3431dup
ENST00000353632.6:c.3268-4_3311dup
ENST00000378910.9:c.3388-4_3431dup
NM_004646.3:c.3388-4_3431dup , LRG_693t1:c.3388-4_3431dup
NM_004646.4:c.3388-4_3431dup
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