ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA280222
Gene: FGFR3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000017755
RCV000017756
RCV001269938
RCV002496393
RCV003556038
ClinVar Variation:
16346
16347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000133.1:p.Lys650Asn
CA280221
NM_000142.5:c.1950G>C
CA341419
NM_000142.5:c.1950G>T