ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830124874
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204295
ClinVar RCV Id:
RCV000186499
RCV000480507
RCV000664222
RCV000850513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Ile1170Thr
CA203987
NM_080645.3:c.3509T>C