ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105489
Gene: COLQ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6654
ClinVar RCV Id:
RCV000007033
RCV001813737
RCV004526590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005668.2:p.Tyr430Ser
CA118395
NM_005677.4:c.1289A>C