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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993570
Gene: FGFR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376429
ClinVar RCV Id:
RCV000425019
RCV000424432
RCV000435153
RCV000443693
RCV000443832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167538.1:p.Asn577Asp
CA16602864
NM_001174067.2:c.1729A>G