ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA127108
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_005193.1:p.Leu450Trp
CA127107
NM_005202.4:c.1349T>G