ClinGen Allele Registry
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Canonical Allele Identifier:
PA099957
Gene: COL7A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018989
RCV000190693
RCV003441721
ClinVar Variation:
17439
208679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000085.1:p.Gly2242Arg
CA127194
NM_000094.4:c.6724G>A
CA204663
NM_000094.4:c.6724G>C