ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645380821
Gene: COL7A1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000085.1:p.Gly1483Asp
NM_000094.4:c.4448G>A