Allele Registry

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.

Canonical Allele Identifier: PA915956620

Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 751224

ClinVar RCV Id: RCV000928260 RCV001272609

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Arg1506Gln	CA2379986 NM_000094.4:c.4517G>A