ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827937978
Gene: FGFR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376216
ClinVar RCV Id:
RCV000418578
RCV000733922
RCV001000850
RCV004530520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341738.1:p.Val554Met
CA2810534
NM_001354809.2:c.1660G>A