ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741811606
Gene: COL7A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003722499
ClinVar Variation:
2887731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000085.1:p.Pro2027Ser
CA352663371
NM_000094.4:c.6079C>T