Canonical Allele Identifier: PA1139697785
Gene: COL7A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Val21Leu
CA2381672
NM_000094.4:c.61G>C
CA352750312
NM_000094.4:c.61G>T