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: PA2741811589

Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2989965

ClinVar RCV Id: RCV003842596

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly1842Arg	CA352671670 NM_000094.4:c.5524G>C CA352671675 NM_000094.4:c.5524G>A