ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830121143
Gene: COL11A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
275714
ClinVar RCV:
RCV000275597
RCV000330638
RCV000494431
ClinVar Variation:
291535
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Arg360His
CA974978
NM_080630.4:c.1079G>A