ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830004919
Gene: FGFR3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000017749
RCV000017750
RCV001574416
RCV002310592
RCV002496392
ClinVar Variation:
16341
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075254.1:p.Lys538Met
CA126382
NM_022965.4:c.1613A>T