ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826840107
Gene: COL8A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018687
RCV000018688
ClinVar Variation:
17148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001281276.1:p.Leu385Trp
CA127107
NM_001294347.2:c.1154T>G