ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139682506
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
970881
ClinVar RCV Id:
RCV001246537
RCV001835271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Pro988Leu
CA368989157
NM_000492.4:c.2963C>T