Canonical Allele Identifier: PA2580106696
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2428056
ClinVar RCV Id: RCV003117027
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro1980Ser
CA352664904
NM_000094.4:c.5938C>T